RGD Reference Report - H1-MAPT and the risk for familial essential tremor. - Rat Genome Database

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H1-MAPT and the risk for familial essential tremor.

Authors: Garcia-Martin, E  Martinez, C  Alonso-Navarro, H  Benito-Leon, J  Lorenzo-Betancor, O  Pastor, P  Lopez-Alburquerque, T  Samaranch, L  Lorenzo, E  Agundez, JA  Jimenez-Jimenez, FJ 
Citation: Garcia-Martin E, etal., PLoS One. 2012;7(7):e41581. doi: 10.1371/journal.pone.0041581. Epub 2012 Jul 23.
RGD ID: 8158098
Pubmed: PMID:22911817   (View Abstract at PubMed)
PMCID: PMC3402423   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pone.0041581   (Journal Full-text)

The most frequent MAPT H1 haplotype is associated with the risk for developing progressive supranuclear palsy and other neurodegenerative diseases such as Parkinson's disease. A recent report suggests that the MAPT H1 is associated with the risk for developing essential tremor. We wanted to confirm this association in a different population. We analyzed the distribution of allelic and genotype frequencies of rs1052553, which is an H1/H2 SNP, in 200 subjects with familial ET and 291 healthy controls. rs1052553 genotype and allelic frequencies did not differ significantly between subjects with ET and controls and were unrelated with the age at onset of tremor or gender, and with the presence of head, voice, chin, and tongue tremor. Our study suggests that the MAPT H1 rs1052553 is not associated with the risk for developing familial ET in the Spanish population.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
essential tremor no_associationIAGP 8158098DNA:SNP: :rs1052553 (human)RGD 
essential tremor no_associationISOMAPT (Homo sapiens)8158098; 8158098DNA:SNP: :rs1052553 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Mapt  (microtubule-associated protein tau)

Genes (Mus musculus)
Mapt  (microtubule-associated protein tau)

Genes (Homo sapiens)
MAPT  (microtubule associated protein tau)


Additional Information